Dados do Trabalho

Título

IDENTIFYING A PRESYMPTOMATIC SPINAL MUSCULAR ATROPHY (SMA) PATIENT IN THE ABSENCE OF NEONATAL SCREENING: A CASE REPORT.

Apresentação do caso

We present a 6 m.o. male patient, second child of non-consanguineous parents, born at term without perinatal complications and with age-appropriate neuropsychomotor development. His older brother was diagnosed with spinal muscular atrophy at the age of 6 years. For this reason, he underwent genetic testing for SMA, even though no clinical signs were noticed. He was found to have biallelic SMN1 deletion and 3 copies of SMN2, confirming the diagnosis of presymptomatic SMA. Nusinersen infusions were immediately started. At 3 months of age, CHOP-INTEND score was 45/64. The scale was administered again at 6 months of age with a perfect score of 64/64. The patient remains asymptomatic and with normal physical examination, without tongue fasciculations and with preserved reflexes.

Discussão

The importance of early suspicion and diagnosis of SMA patients is paramount so that modifying therapies can be started before irreversible loss of motor neurons. In a national scenario in which neonatal screening for SMA is not yet a reality, early testing of individuals with known family history of SMA may be essential to identify presymptomatic patients who are known to have excellent evolution when treated.

Comentários finais

Spinal muscular atrophy (SMA) is the most common genetic cause of death in childhood and the second most prevalent autosomal recessive disease in this age group. Thus, greater accessibility to molecular genetic tests is a determining factor for early diagnosis and treatment, contributing to a reduction in morbidity and mortality and promoting a better quality of life for patients and their families.

Referências (se houver)

Palavras Chave

Spinal muscular atrophy, neonatal screening:, presymptomatic

Fonte de Fomento (se houver)

Declaração de conflito de interesses de TODOS os autores

Não há conflito de interesses

Área

Doenças neuromusculares